Term Name: Wolfram syndrome 2
Synonyms: WFS2
Definition: An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.
Ontology: Human Disease [DOID:0110630]   ( DOID:0110630 )

Relationships
is a type of: autosomal recessive disease Wolfram syndrome
inverse disjoint_from: Wolfram syndrome 1